Detalhe da pesquisa
1.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
2.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
3.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
4.
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.
Muscle Nerve
; 46(2): 246-56, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22806374
5.
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Brain
; 131(Pt 3): 747-59, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18180250
6.
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain
; 131(Pt 5): 1217-27, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18325928
7.
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Neuromuscul Disord
; 17(8): 624-30, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17587580
8.
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Parkinsonism Relat Disord
; 45: 81-84, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28958832
9.
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Eur J Hum Genet
; 25(5): 572-581, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28295036
10.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
J Neuromuscul Dis
; 4(4): 293-306, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125504
11.
ANO10 mutations cause ataxia and coenzyme Q10 deficiency.
J Neurol
; 261(11): 2192-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182700
12.
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
J Neurol
; 261(1): 152-63, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24162038
13.
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Nat Genet
; 44(10): 1080-3, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22961002